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The effect of methylphenidate on neurofibromatosis type 1: a randomised, doubleblind, placebo-controlled, crossover trial.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0142-4
By:
- Lion-François, Laurence;
- Gueyffier, François;
- Mercier, Catherine;
- Gérard, Daniel;
- Herbillon, Vania;
- Kemlin, Isabelle;
- Rodriguez, Diana;
- Ginhoux, Tiphanie;
- Peyric, Emeline;
- Coutinho, Virginie;
- Bréant, Valentine;
- Portes, Vincent des;
- Pinson, Stéphane;
- Combemale, Patrick;
- Kassaï, Behrouz
Publication type:
Article
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.
Published in:
2014
By:
- Lion-François, Laurence;
- Gueyffier, François;
- Mercier, Catherine;
- Gérard, Daniel;
- Herbillon, Vania;
- Kemlin, Isabelle;
- Rodriguez, Diana;
- Ginhoux, Tiphanie;
- Peyric, Emeline;
- Coutinho, Virginie;
- Bréant, Valentine;
- des Portes, Vincent;
- Pinson, Stéphane;
- Combemale, Patrick;
- Kassaï, Behrouz;
- Réseau NF1 Rhône Alpes Auvergne-France
Publication type:
journal article
Human Radiosensitivity and Radiosusceptibility: What Are the Differences?
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 7158, doi. 10.3390/ijms22137158
By:
- El-Nachef, Laura;
- Al-Choboq, Joelle;
- Restier-Verlet, Juliette;
- Granzotto, Adeline;
- Berthel, Elise;
- Sonzogni, Laurène;
- Ferlazzo, Mélanie L.;
- Bouchet, Audrey;
- Leblond, Pierre;
- Combemale, Patrick;
- Pinson, Stéphane;
- Bourguignon, Michel;
- Foray, Nicolas
Publication type:
Article
Génétique de la neurofibromatose de type 1.
Published in:
Dermato Mag, 2023, v. 11, p. 18, doi. 10.1684/dmg.2023.618
By:
- Pinson, Stéphane
Publication type:
Article
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 221, doi. 10.1038/jhg.2015.6
By:
- Imbard, Apolline;
- Pasmant, Eric;
- Sabbagh, Audrey;
- Luscan, Armelle;
- Soares, Magali;
- Goussard, Philippe;
- Blanché, Hélène;
- Laurendeau, Ingrid;
- Ferkal, Salah;
- Vidaud, Michel;
- Pinson, Stéphane;
- Bellanne-Chantelot, Christine;
- Vidaud, Dominique;
- Wolkenstein, Pierre;
- Parfait, Béatrice
Publication type:
Article
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Published in:
Genes, Chromosomes & Cancer, 2023, v. 62, n. 4, p. 210, doi. 10.1002/gcc.23112
By:
- Leclerc, Julie;
- Beaumont, Marie;
- Vibert, Roseline;
- Pinson, Stéphane;
- Vermaut, Catherine;
- Flament, Cathy;
- Lovecchio, Tonio;
- Delattre, Lucie;
- Demay, Christophe;
- Coulet, Florence;
- Guillerm, Erell;
- Hamzaoui, Nadim;
- Benusiglio, Patrick R.;
- Brahimi, Afane;
- Cornelis, François;
- Delhomelle, Hélène;
- Fert‐Ferrer, Sandra;
- Fournier, Benjamin P. J.;
- Hovnanian, Alain;
- Legrand, Clémentine
Publication type:
Article
Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome.
Published in:
Prenatal Diagnosis, 1999, v. 19, n. 2, p. 181, doi. 10.1002/(SICI)1097-0223(199902)19:2<181::AID-PD507>3.0.CO;2-Z
By:
- Stéphane, Pinson;
- Geneviève, Lefort
Publication type:
Article
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
Published in:
Thyroid, 2017, v. 27, n. 12, p. 1511, doi. 10.1089/thy.2016.0399
By:
- Lebeault, Maylis;
- Pinson, Stéphane;
- Guillaud-Bataille, Marine;
- Gimenez-Roqueplo, Anne-Paule;
- Carrie, Alain;
- Barbu, Véronique;
- Pigny, Pascal;
- Bezieau, Stéphane;
- Rey, Jean-Marc;
- Delvincourt, Chantal;
- Giraud, Sophie;
- Veyrat-Durebex, Charlotte;
- Saulnier, Patrick;
- Bouzamondo, Nathalie;
- Chabbert, Marie;
- Blin, Julien;
- Mohamed, Amira;
- Romanet, Pauline;
- Borson-Chazot, Francoise;
- Rohmer, Vincent
Publication type:
Article
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Published in:
BMC Medical Genomics, 2018, v. 11, p. 1, doi. 10.1186/s12920-018-0338-x
By:
- Calender, Alain;
- Rollat Farnier, Pierre Antoine;
- Buisson, Adrien;
- Pinson, Stéphane;
- Bentaher, Abderrazzaq;
- Lebecque, Serge;
- Corvol, Harriet;
- Abou Taam, Rola;
- Houdouin, Véronique;
- Bardel, Claire;
- Roy, Pascal;
- Devouassoux, Gilles;
- Cottin, Vincent;
- Seve, Pascal;
- Bernaudin, Jean-François;
- Lim, Clarice X.;
- Weichhart, Thomas;
- Valeyre, Dominique;
- Pacheco, Yves;
- Clement, Annick
Publication type:
Article
Neurofibromatosis 1-associated neuropathies: a reappraisal.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 1993, doi. 10.1093/brain/awh234
By:
- Alain Drouet;
- Pierre Wolkenstein;
- Jean-Pascal Lefaucheur;
- Stéphane Pinson;
- Patrick Combemale;
- Romain K. Gherardi;
- Pierre Brugières;
- Jeffrey Salama;
- Pascal Ehre;
- Philippe Decq;
- Alain Créange
Publication type:
Article
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Published in:
Clinical Genetics, 2021, v. 99, n. 5, p. 662, doi. 10.1111/cge.13925
By:
- Boulouard, Flavie;
- Kasper, Edwige;
- Buisine, Marie‐Pierre;
- Lienard, Gwendoline;
- Vasseur, Stéphanie;
- Manase, Sandrine;
- Bahuau, Michel;
- Barouk Simonet, Emmanuelle;
- Bubien, Virginie;
- Coulet, Florence;
- Cusin, Véronica;
- Dhooge, Marion;
- Golmard, Lisa;
- Goussot, Vincent;
- Hamzaoui, Nadim;
- Lacaze, Elodie;
- Lejeune, Sophie;
- Mauillon, Jacques;
- Beaumont, Marie‐Pascale;
- Pinson, Stéphane
Publication type:
Article
The UMD- APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations.
Published in:
Human Mutation, 2014, v. 35, n. 5, p. 532, doi. 10.1002/humu.22539
By:
- Grandval, Philippe;
- Blayau, Martine;
- Buisine, Marie ‐ Pierre;
- Coulet, Florence;
- Maugard, Christine;
- Pinson, Stéphane;
- Remenieras, Audrey;
- Tinat, Julie;
- Uhrhammer, Nancy;
- Béroud, Christophe;
- Olschwang, Sylviane
Publication type:
Article
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience.
Published in:
Human Mutation, 2013, v. 34, n. 11, p. 1510, doi. 10.1002/humu.22392
By:
- Sabbagh, Audrey;
- Pasmant, Eric;
- Imbard, Apolline;
- Luscan, Armelle;
- Soares, Magali;
- Blanché, Hélène;
- Laurendeau, Ingrid;
- Ferkal, Salah;
- Vidaud, Michel;
- Pinson, Stéphane;
- Bellanné-Chantelot, Christine;
- Vidaud, Dominique;
- Parfait, Béatrice;
- Wolkenstein, Pierre
Publication type:
Article
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
Published in:
Human Mutation, 2007, v. 28, n. 11, p. 1084, doi. 10.1002/humu.20569
By:
- Auclair, Jessie;
- Leroux, Dominique;
- Desseigne, Françoise;
- Lasset, Christine;
- Saurin, Jean Christophe;
- Joly, Marie Odile;
- Pinson, Stéphane;
- Xu, Xiao Li;
- Montmain, Gilles;
- Ruano, Eric;
- Navarro, Claudine;
- Puisieux, Alain;
- Wang, Qing
Publication type:
Article
Distribution of ENG and ACVRL1 ( ALK1) mutations in French HHT patients.
Published in:
Human Mutation, 2006, v. 27, n. 6, p. 598, doi. 10.1002/humu.9421
By:
- Lesca, Gaëtan;
- Burnichon, Nelly;
- Raux, Grégory;
- Tosi, Mario;
- Pinson, Stéphane;
- Marion, Marie-Jeanne;
- Babin, Emmanuel;
- Gilbert-Dussardier, Brigitte;
- Rivière, Sophie;
- Goizet, Cyril;
- Faivre, Laurence;
- Plauchu, Henri;
- Frébourg, Thierry;
- Calender, Alain;
- Giraud, Sophie
Publication type:
Article
Individual Response to Radiation of Individuals with Neurofibromatosis Type I: Role of the ATM Protein and Influence of Statins and Bisphosphonates.
Published in:
Molecular Neurobiology, 2022, v. 59, n. 1, p. 556, doi. 10.1007/s12035-021-02615-3
By:
- Combemale, Patrick;
- Sonzogni, Laurène;
- Devic, Clément;
- Bencokova, Zuzana;
- Ferlazzo, Mélanie Lydia;
- Granzotto, Adeline;
- Burlet, Steven Franck;
- Pinson, Stéphane;
- Amini-Adle, Mona;
- Al-Choboq, Joëlle;
- Bodgi, Larry;
- Bourguignon, Michel;
- Balosso, Jacques;
- Bachelet, Jean-Thomas;
- Foray, Nicolas
Publication type:
Article
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Published in:
Human Mutation, 2004, v. 23, n. 4, p. 289, doi. 10.1002/humu.20017
By:
- Lesca, Gaëtan;
- Plauchu, Henri;
- Coulet, Florence;
- Lefebvre, Sylvain;
- Plessis, Ghislaine;
- Odent, Sylvie;
- Rivière, Sophie;
- Leheup, Bruno;
- Goizet, Cyril;
- Carette, Marie-France;
- Cordier, Jean-François;
- Pinson, Stéphane;
- Soubrier, Florent;
- Calender, Alain;
- Giraud, Sophie
Publication type:
Article
Very early prophylactic thyroid surgery for infants with a mutation of the RET proto-oncogene at codon 634: evaluation of the implementation of international guidelines for MEN type 2 in a single centre.
Published in:
Clinical Endocrinology, 2006, v. 65, n. 1, p. 118, doi. 10.1111/j.1365-2265.2006.02559.x
By:
- Piolat, Christian;
- Dyon, Jean-François;
- Sturm, Nathalie;
- Pinson, Stéphane;
- Bost, Michel;
- Jouk, Pierre-Simon;
- Plantaz, Dominique;
- Chabre, Olivier
Publication type:
Article

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